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Q13686

- ALKB1_HUMAN

UniProt

Q13686 - ALKB1_HUMAN

Protein

Alkylated DNA repair protein alkB homolog 1

Gene

ALKBH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation By similarity. Has DNA lyase activity and introduces double-stranded breaks at abasic sites. Cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites. DNA lyase activity does not require alpha-ketoglutarate and iron.By similarity2 Publications

    Catalytic activityi

    The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate.
    DNA-base-CH3 + 2-oxoglutarate + O2 = DNA-base + formaldehyde + succinate + CO2.

    Cofactori

    Binds 1 Fe2+ ion per subunit.1 PublicationPROSITE-ProRule annotation

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei170 – 1701SubstrateBy similarity
    Metal bindingi231 – 2311Iron; catalyticPROSITE-ProRule annotation
    Metal bindingi233 – 2331Iron; catalyticPROSITE-ProRule annotation
    Binding sitei261 – 2611SubstrateBy similarity
    Metal bindingi287 – 2871Iron; catalyticPROSITE-ProRule annotation

    GO - Molecular functioni

    1. chemoattractant activity Source: Ensembl
    2. DNA-(apurinic or apyrimidinic site) lyase activity Source: UniProtKB
    3. ferrous iron binding Source: UniProtKB
    4. methylcytosine dioxygenase activity Source: UniProtKB

    GO - Biological processi

    1. developmental growth Source: Ensembl
    2. DNA catabolic process, endonucleolytic Source: GOC
    3. DNA dealkylation involved in DNA repair Source: UniProtKB
    4. DNA demethylation Source: UniProtKB
    5. DNA repair Source: UniProtKB
    6. in utero embryonic development Source: Ensembl
    7. negative regulation of neuron apoptotic process Source: Ensembl
    8. neuron migration Source: Ensembl
    9. neuron projection development Source: Ensembl
    10. oxidative demethylation Source: UniProtKB
    11. placenta development Source: Ensembl
    12. RNA repair Source: UniProtKB

    Keywords - Molecular functioni

    Dioxygenase, Lyase, Oxidoreductase

    Keywords - Biological processi

    DNA damage, DNA repair, RNA repair

    Keywords - Ligandi

    Iron, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alkylated DNA repair protein alkB homolog 1 (EC:1.14.11.33)
    Alternative name(s):
    Alpha-ketoglutarate-dependent dioxygenase ABH1
    DNA lyase ABH1 (EC:4.2.99.18)
    DNA oxidative demethylase ALKBH1
    Gene namesi
    Name:ALKBH1
    Synonyms:ABH, ABH1, ALKBH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:17911. ALKBH1.

    Subcellular locationi

    Mitochondrion 2 Publications. Nucleus By similarity
    Note: Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli.By similarity

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB
    2. nuclear euchromatin Source: Ensembl

    Keywords - Cellular componenti

    Mitochondrion, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi218 – 2181I → L: Reduces Fe2OG dioxygenase activity by 50%. 1 Publication
    Mutagenesisi231 – 2311H → A: Near loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
    Mutagenesisi233 – 2331D → A: Loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
    Mutagenesisi287 – 2871H → A: Loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
    Mutagenesisi338 – 3381R → A: Reduced Fe2OG dioxygenase activity. 1 Publication
    Mutagenesisi344 – 3441R → A: Reduced Fe2OG dioxygenase activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA134906996.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 389389Alkylated DNA repair protein alkB homolog 1PRO_0000066668Add
    BLAST

    Proteomic databases

    MaxQBiQ13686.
    PaxDbiQ13686.
    PRIDEiQ13686.

    PTM databases

    PhosphoSiteiQ13686.

    Expressioni

    Tissue specificityi

    Ubiquitous.2 Publications

    Gene expression databases

    ArrayExpressiQ13686.
    BgeeiQ13686.
    CleanExiHS_ALKBH1.
    GenevestigatoriQ13686.

    Organism-specific databases

    HPAiHPA044087.

    Interactioni

    Subunit structurei

    Monomer. Interacts with DNAJB6 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi114372. 2 interactions.
    STRINGi9606.ENSP00000216489.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13686.
    SMRiQ13686. Positions 189-289.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini208 – 347140Fe2OG dioxygenasePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni177 – 1793Substrate bindingBy similarity
    Regioni220 – 2223Alpha-ketoglutarate bindingBy similarity
    Regioni338 – 3447Alpha-ketoglutarate bindingBy similarity

    Sequence similaritiesi

    Belongs to the alkB family.Curated
    Contains 1 Fe2OG dioxygenase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG3145.
    HOGENOMiHOG000033905.
    HOVERGENiHBG050487.
    InParanoidiQ13686.
    KOiK10765.
    OMAiKKYSADH.
    OrthoDBiEOG71P2CK.
    PhylomeDBiQ13686.
    TreeFamiTF314609.

    Family and domain databases

    Gene3Di2.60.120.590. 2 hits.
    InterProiIPR004574. Alkb.
    IPR027450. AlkB-like.
    IPR005123. Oxoglu/Fe-dep_dioxygenase.
    [Graphical view]
    PfamiPF13532. 2OG-FeII_Oxy_2. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00568. alkb. 1 hit.
    PROSITEiPS51471. FE2OG_OXY. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13686-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGKMAAAVGS VATLATEPGE DAFRKLFRFY RQSRPGTADL EGVIDFSAAH    50
    AARGKGPGAQ KVIKSQLNVS SVSEQNAYRA GLQPVSKWQA YGLKGYPGFI 100
    FIPNPFLPGY QWHWVKQCLK LYSQKPNVCN LDKHMSKEET QDLWEQSKEF 150
    LRYKEATKRR PRSLLEKLRW VTVGYHYNWD SKKYSADHYT PFPSDLGFLS 200
    EQVAAACGFE DFRAEAGILN YYRLDSTLGI HVDRSELDHS KPLLSFSFGQ 250
    SAIFLLGGLQ RDEAPTAMFM HSGDIMIMSG FSRLLNHAVP RVLPNPEGEG 300
    LPHCLEAPLP AVLPRDSMVE PCSMEDWQVC ASYLKTARVN MTVRQVLATD 350
    QNFPLEPIED EKRDISTEGF CHLDDQNSEV KRARINPDS 389
    Length:389
    Mass (Da):43,832
    Last modified:December 1, 2000 - v2
    Checksum:i539C4CE41D2D8AEC
    GO

    Sequence cautioni

    The sequence CAA63047.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti133 – 1331K → T in CAA63047. (PubMed:8600462)Curated
    Sequence conflicti266 – 2672TA → PP in CAA63047. (PubMed:8600462)Curated
    Sequence conflicti388 – 3881D → H in AAH25787. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti135 – 1351M → I.
    Corresponds to variant rs17825440 [ dbSNP | Ensembl ].
    VAR_048221
    Natural varianti324 – 3241M → L.
    Corresponds to variant rs6494 [ dbSNP | Ensembl ].
    VAR_048222

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X91992 mRNA. Translation: CAA63047.1. Frameshift.
    AC008044 Genomic DNA. Translation: AAF01478.1.
    BC025787 mRNA. Translation: AAH25787.1.
    CCDSiCCDS32127.1.
    PIRiS64736.
    RefSeqiNP_006011.2. NM_006020.2.
    UniGeneiHs.94542.

    Genome annotation databases

    EnsembliENST00000216489; ENSP00000216489; ENSG00000100601.
    GeneIDi8846.
    KEGGihsa:8846.
    UCSCiuc001xuc.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X91992 mRNA. Translation: CAA63047.1 . Frameshift.
    AC008044 Genomic DNA. Translation: AAF01478.1 .
    BC025787 mRNA. Translation: AAH25787.1 .
    CCDSi CCDS32127.1.
    PIRi S64736.
    RefSeqi NP_006011.2. NM_006020.2.
    UniGenei Hs.94542.

    3D structure databases

    ProteinModelPortali Q13686.
    SMRi Q13686. Positions 189-289.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114372. 2 interactions.
    STRINGi 9606.ENSP00000216489.

    PTM databases

    PhosphoSitei Q13686.

    Proteomic databases

    MaxQBi Q13686.
    PaxDbi Q13686.
    PRIDEi Q13686.

    Protocols and materials databases

    DNASUi 8846.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216489 ; ENSP00000216489 ; ENSG00000100601 .
    GeneIDi 8846.
    KEGGi hsa:8846.
    UCSCi uc001xuc.1. human.

    Organism-specific databases

    CTDi 8846.
    GeneCardsi GC14M078138.
    H-InvDB HIX0011855.
    HGNCi HGNC:17911. ALKBH1.
    HPAi HPA044087.
    MIMi 605345. gene.
    neXtProti NX_Q13686.
    PharmGKBi PA134906996.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3145.
    HOGENOMi HOG000033905.
    HOVERGENi HBG050487.
    InParanoidi Q13686.
    KOi K10765.
    OMAi KKYSADH.
    OrthoDBi EOG71P2CK.
    PhylomeDBi Q13686.
    TreeFami TF314609.

    Miscellaneous databases

    GenomeRNAii 8846.
    NextBioi 33208.
    PROi Q13686.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13686.
    Bgeei Q13686.
    CleanExi HS_ALKBH1.
    Genevestigatori Q13686.

    Family and domain databases

    Gene3Di 2.60.120.590. 2 hits.
    InterProi IPR004574. Alkb.
    IPR027450. AlkB-like.
    IPR005123. Oxoglu/Fe-dep_dioxygenase.
    [Graphical view ]
    Pfami PF13532. 2OG-FeII_Oxy_2. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00568. alkb. 1 hit.
    PROSITEi PS51471. FE2OG_OXY. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and functional analysis of a human cDNA encoding an Escherichia coli AlkB homolog, a protein involved in DNA alkylation damage repair."
      Wei Y.F., Carter K.C., Wang R.P., Shell B.K.
      Nucleic Acids Res. 24:931-937(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Synovial sarcoma.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pancreas.
    4. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    5. "Human AlkB homolog 1 is a mitochondrial protein that demethylates 3-methylcytosine in DNA and RNA."
      Westbye M.P., Feyzi E., Aas P.A., Vagbo C.B., Talstad V.A., Kavli B., Hagen L., Sundheim O., Akbari M., Liabakk N.B., Slupphaug G., Otterlei M., Krokan H.E.
      J. Biol. Chem. 283:25046-25056(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-218; HIS-231; ASP-233; HIS-287; ARG-338 AND ARG-344, IDENTIFICATION BY MASS SPECTROMETRY, TISSUE SPECIFICITY.
    6. "Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites."
      Muller T.A., Meek K., Hausinger R.P.
      DNA Repair 9:58-65(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF HIS-231; ASP-233 AND HIS-287, SUBUNIT.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiALKB1_HUMAN
    AccessioniPrimary (citable) accession number: Q13686
    Secondary accession number(s): Q8TAU1, Q9ULA7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 115 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    Detected in cytoplasm and nucleus When expressed as fusion protein with an N-terminal tag, or when the first 26 N-terminal residues are removed (PubMed:17979886 and PubMed:18603530). The endogenous, unmodified protein localizes to mitochondria (PubMed:18603530).1 Publication

    Keywords - Technical termi

    Complete proteome, Multifunctional enzyme, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3